Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23

Karla R. Bowles, Robert Gajarski, Patrick Porter, Veronica Goytia, Linda Bachinski, Robert Roberts, Ricardo Pignatelli, Jeffrey Towbin

Research output: Contribution to journalArticle

127 Citations (Scopus)

Abstract

Dilated cardiomyopathy (DCM) is the most common form of primary myocardial disorder, accounting for 60% of all cardiomyopathies. In 20-30% of cases, familial inheritance can be demonstrated; an autosomal dominant transmission is the usual type of inheritance pattern identified. Previously, genetic heterogeneity was demonstrated in familial autosomal dominant dilated cardiomyopathy (FDCM). Gene localization to chromosome 1 (1p1-1q1 and 1q32), chromosome 3 (3p25-3p22), and chromosome 9 (9q13-9q22) has recently been identified. We report one family with 26 members (12 affected) with familial autosomal dominant dilated cardiomyopathy in which linkage to chromosome 10 at the 10q21-q23 locus is identified. Using short tandem repeat polymorphism (STR) markers with heterozygosity > 70%, 169 markers (50% of the genome) were used before linkage was found to markers D10S605 and D10S201 with a pairwise LOD score = 3.91, 0 = 0, penetrance = 100% for both markers. Linkage to 1p1- 1q1, 1q32, 3p25-3p22, and 9q13-9q22 was excluded. We conclude that a new locus for pure autosomal dominant FDCM exists, and that this gene is localized to a 9 cM region of 10q21-10q23. The search for the disease causing gene and the responsible mutation(s) is ongoing.

Original languageEnglish (US)
Pages (from-to)1355-1360
Number of pages6
JournalJournal of Clinical Investigation
Volume98
Issue number6
DOIs
StatePublished - Sep 15 1996

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Chromosome Mapping
Dilated Cardiomyopathy
Chromosomes
Genes
Inheritance Patterns
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 9
Chromosomes, Human, Pair 3
Genetic Heterogeneity
Penetrance
Chromosomes, Human, Pair 1
Cardiomyopathies
Microsatellite Repeats
Genome
Mutation

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. / Bowles, Karla R.; Gajarski, Robert; Porter, Patrick; Goytia, Veronica; Bachinski, Linda; Roberts, Robert; Pignatelli, Ricardo; Towbin, Jeffrey.

In: Journal of Clinical Investigation, Vol. 98, No. 6, 15.09.1996, p. 1355-1360.

Research output: Contribution to journalArticle

Bowles, KR, Gajarski, R, Porter, P, Goytia, V, Bachinski, L, Roberts, R, Pignatelli, R & Towbin, J 1996, 'Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23', Journal of Clinical Investigation, vol. 98, no. 6, pp. 1355-1360. https://doi.org/10.1172/JCI118922
Bowles KR, Gajarski R, Porter P, Goytia V, Bachinski L, Roberts R et al. Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. Journal of Clinical Investigation. 1996 Sep 15;98(6):1355-1360. https://doi.org/10.1172/JCI118922
Bowles, Karla R. ; Gajarski, Robert ; Porter, Patrick ; Goytia, Veronica ; Bachinski, Linda ; Roberts, Robert ; Pignatelli, Ricardo ; Towbin, Jeffrey. / Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. In: Journal of Clinical Investigation. 1996 ; Vol. 98, No. 6. pp. 1355-1360.
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